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1دورية أكاديمية
المؤلفون: Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)
مصطلحات موضوعية: DYSF, dysferlinopathy, endemic allele, endogamy, ethnic isolate, founder effect, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
المؤلفون: Roman V. Deev, Sergei N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Zoya R. Umakhanova, Patimat G. Akhmedova, Raisat M. Magomedova, Irina A. Chekmaryeva, Gimat D. Dalgatov, Artur A. Isaev
المصدر: Frontiers in Neurology, Vol 8 (2017)
مصطلحات موضوعية: plectin, plectinopathy, limb-girdle muscle dystrophy 2Q, lung injury, muscular dystrophies, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: Vadim A. Tsargush, Roman V. Deev, Angelina Titova, V.L. Zorin, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, M O Mavlikeev, C. Gartioux, Sergey N. Bardakov, Raisat M. Magomedova, Fedor A. Konovalov, Valérie Allamand, Zoya R. Umakhanova, Ekaterina N. Chernets, Gimat D. Dalgatov, Kamil Z. Zulfugarov
المساهمون: Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Kazan Federal University (KFU), Centre de recherche en Myologie – U974 SU-INSERM
المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2020, pp.1-12. ⟨10.3233/JND-200476⟩مصطلحات موضوعية: 0301 basic medicine, Research Report, Male, medicine.medical_specialty, Contracture, Genotype, Ullrich congenital muscular dystrophy, [SDV]Life Sciences [q-bio], COL6A1, Mutation, Missense, Collagen Type VI, Biology, leaky splicing, Muscular Dystrophies, 03 medical and health sciences, Exon, 0302 clinical medicine, type VI collagen, Collagen VI, Internal medicine, fibroblasts, medicine, Missense mutation, Humans, Sibling, Myopathy, collagenopathy, Bethlem myopathy, Infant, Exons, Middle Aged, medicine.disease, contractures, Introns, 030104 developmental biology, Endocrinology, Phenotype, Neurology, Biological Variation, Population, myosclerotic phenotype of Bethlem myopathy, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2f1397fdf700dced3ab8143a7c49f6
http://europepmc.org/articles/PMC8075389 -
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المؤلفون: Sergey N, Bardakov, Vadim A, Tsargush, Pierre G, Carlier, Sergey S, Nikitin, Sergey A, Kurbatov, Angelina A, Titova, Zoya R, Umakhanova, Patimat G, Akhmedova, Raisat M, Magomedova, Igor S, Zheleznyak, Alexander A, Emelyantsev, Ekaterina N, Berezhnaya, Ivan, A Yakovlev, Artur A, Isaev, Roman V, Deev
المصدر: Acta Myologica
مصطلحات موضوعية: Muscular Diseases, Muscular Dystrophies, Limb-Girdle, MRI pattern, Miyoshi myopathy, Humans, Original Article, T2-MSME, Muscle, Skeletal, Magnetic Resonance Imaging, dysferlinopathy, LGMDR2, LGMD2B
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cac65c3e0baec8f89ba370b49b293eef
https://pubmed.ncbi.nlm.nih.gov/35047756 -
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المؤلفون: R. V. Deev, Olga N. Chernova, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, Gimat D. Dalgatov, Ivan A. Yakovlev, Zoya R. Umakhanova, Raisat M. Magomedova, Sergey N. Bardakov, Valerii P. Fedotov, M O Mavlikeev
المصدر: Frontiers in Neurology
مصطلحات موضوعية: muscular dystrophy, Dysferlinopathy, medicine.medical_specialty, Miyoshi myopathy, biology, business.industry, Correction, medicine.disease, dysferlinopathy, dysferlin, Dysferlin, Neurology, Internal medicine, medicine, biology.protein, In patient, Neurology (clinical), Muscular dystrophy, business, Clinical progression, Neuroscience, LGMD2B
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da8ed59cc64a2bf8e0e19bfa0460fa7
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المؤلفون: Gimat D. Dalgatov, Valerii P. Fedotov, S. N. Bardakov, Zoya R. Umakhanova, Olga N. Chernova, Isaev Artur Aleksandrovich, R. V. Deev, Ivan A. Yakovlev, Raisat M. Magomedova, Patimat G. Akhmedova, M O Mavlikeev
المصدر: Frontiers in Neurology
مصطلحات موضوعية: 0301 basic medicine, muscular dystrophy, medicine.medical_specialty, Dysferlinopathy, Miyoshi myopathy, Case Report, Disease, Dysferlin, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, medicine, In patient, Muscular dystrophy, Genetics, biology, business.industry, Incidence (epidemiology), medicine.disease, dysferlinopathy, dysferlin, 030104 developmental biology, Neurology, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroscience, LGMD2B
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a83a55fccfb4db0b2922caca687bea
http://europepmc.org/articles/PMC5340769